Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Complete adenine phosphoribosyltransferase (APRT) deficiency causes 2,8-dihydroxyadenine urolithiasis. In previous reports, analysis of the kinetic properties of APRT from APRT-deficient Japanese subjects revealed strikingly similar abnormalities suggesting a distinct "Japanese-type" mutat...

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Detalhes bibliográficos
Main Authors: Hidaka, Y, Tarlé, S A, Fujimori, S, Kamatani, N, Kelley, W N, Palella, T D
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC442550/
https://ncbi.nlm.nih.gov/pubmed/3343350
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